Canonical Allele Identifier: CA72786258

Gene: MLH1

Linked Data

• dbSNP Id: rs753530414
• MyVariant Identifiers: chr3:g.37034960A>C (hg19) ; chr3:g.36993469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993469A>C , CM000665.2:g.36993469A>C	GRCh38
NC_000003.11:g.37034960A>C , CM000665.1:g.37034960A>C	GRCh37
NC_000003.10:g.37009964A>C	NCBI36
NG_007109.2:g.5120A>C , LRG_216:g.5120A>C
NG_008418.1:g.4836T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.-79A>C	ENSP00000416476.2:n.-79A>C
ENST00000673673.2:c.-79A>C	ENSP00000500979.2:n.-79A>C
ENST00000231790.6:c.-79A>C	ENSP00000231790.2:n.-79A>C
ENST00000536378.5:c.-711A>C	ENSP00000444286.2:n.-711A>C
NM_000249.3:c.-79A>C , LRG_216t1:c.-79A>C	NP_000240.1:n.-79A>C
NM_001258271.1:c.-79A>C	NP_001245200.1:n.-79A>C
NM_001258273.1:c.-711A>C	NP_001245202.1:n.-711A>C
XM_005265161.1:c.-79A>C	XP_005265218.1:n.-79A>C
NM_001167617.2:c.-595A>C	NP_001161089.1:n.-595A>C
NM_001167618.2:c.-1024A>C	NP_001161090.1:n.-1024A>C
NM_001167619.2:c.-937A>C	NP_001161091.1:n.-937A>C
NM_001258274.2:c.-1174A>C	NP_001245203.1:n.-1174A>C
NM_001354615.1:c.-705A>C	NP_001341544.1:n.-705A>C
NM_001354616.1:c.-705A>C	NP_001341545.1:n.-705A>C
NM_001354617.1:c.-797A>C	NP_001341546.1:n.-797A>C
NM_001354618.1:c.-1029A>C	NP_001341547.1:n.-1029A>C
NM_001354619.1:c.-1153A>C	NP_001341548.1:n.-1153A>C
NM_001354620.1:c.-363A>C	NP_001341549.1:n.-363A>C
NM_001354621.1:c.-1122A>C	NP_001341550.1:n.-1122A>C
NM_001354622.1:c.-1235A>C	NP_001341551.1:n.-1235A>C
NM_001354623.1:c.-1144A>C	NP_001341552.1:n.-1144A>C
NM_001354624.1:c.-905A>C	NP_001341553.1:n.-905A>C
NM_001354625.1:c.-803A>C	NP_001341554.1:n.-803A>C
NM_001354626.1:c.-900A>C	NP_001341555.1:n.-900A>C
NM_001354627.1:c.-1132A>C	NP_001341556.1:n.-1132A>C
NM_001354628.1:c.-79A>C	NP_001341557.1:n.-79A>C
NM_001354629.1:c.-79A>C	NP_001341558.1:n.-79A>C
NM_001354630.1:c.-79A>C	NP_001341559.1:n.-79A>C